autosomal recessive disease inherited renal tubular disease nephronophthisis (disease) DOID:12712 GARD:0000206 HP:0000090 ICD10:Q61.5 MONDO:0019005 NCIT:C123200 OMIMPS:256100 Orphanet:655 Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. UMLS:C0687120 UMLS:C2939174 medullary cystic disease medullary cystic kidney nephronophthisis rare renal tubular disease